rs8087694

Variant names:

• chr18-64672065-G-C
• rs8087694

Your query was ambiguous. Multiple possible variants found:

• chr18-64672065-G-C
• chr18-64672065-G-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.684 in 152,022 control chromosomes in the GnomAD database, including 36,730 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.68 (36730 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.717
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.786 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.685 AC: 104004 AN: 151904 Hom.: 36715 Cov.: 32

Gnomad AFR AF: 0.514

Gnomad AMI AF: 0.628

Gnomad AMR AF: 0.656

Gnomad ASJ AF: 0.734

Gnomad EAS AF: 0.743

Gnomad SAS AF: 0.714

Gnomad FIN AF: 0.653

Gnomad MID AF: 0.718

Gnomad NFE AF: 0.791

Gnomad OTH AF: 0.694

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.684 AC: 104048 AN: 152022 Hom.: 36730 Cov.: 32 AF XY: 0.677 AC XY: 50304 AN XY: 74300

African (AFR) AF: 0.513 AC: 21286 AN: 41462

American (AMR) AF: 0.656 AC: 10015 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.734 AC: 2550 AN: 3472

East Asian (EAS) AF: 0.743 AC: 3817 AN: 5138

South Asian (SAS) AF: 0.714 AC: 3445 AN: 4822

European-Finnish (FIN) AF: 0.653 AC: 6887 AN: 10546

Middle Eastern (MID) AF: 0.701 AC: 206 AN: 294

European-Non Finnish (NFE) AF: 0.791 AC: 53806 AN: 67992

Other (OTH) AF: 0.693 AC: 1466 AN: 2116

Alfa AF: 0.729 Hom.: 5122

Bravo AF: 0.676

Asia WGS AF: 0.713 AC: 2481 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.34
DANN	Benign	0.57
PhyloP100		-0.72

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs8087694; hg19: chr18-62339300;